Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation

Molecular Genetics and Metabolism

Volumn 110, Issue 3, 2013, Pages 342-344

  Helander, Anders ^a,c   Stödberg, Tommy ^a   Jaeken, Jaak ^b   Matthijs, Gert ^c   Eriksson, Maud ^a   Eggertsen, Gösta ^a,c  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Carbohydrate deficient transferrin; Congenital disorder of glycosylation; Dolichol kinase; DOLK CDG; Transferrin glycosylation

Indexed keywords

CARBAMAZEPINE; CARBOHYDRATE DEFICIENT TRANSFERRIN; CLONAZEPAM; DOLICHOL KINASE; LIPOOLIGOSACCHARIDE; MANNOSE PHOSPHATE ISOMERASE; PHOSPHOMANNOMUTASE; PHOSPHOTRANSFERASE; TETRACOSACTIDE; TOPIRAMATE; UNCLASSIFIED DRUG; VIGABATRIN;

ARTICLE; AUTISM; CASE REPORT; CHILD; CONGENITAL DISORDER OF GLYCOSYLATION; DOLICHOL KINASE DEFICIENCY; ENZYME DEFICIENCY; EPILEPSY; FEMALE; FOCAL EPILEPSY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INFANT; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; MALE; MESENCEPHALON; MISSENSE MUTATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SIBLING; THALAMUS; TONIC CLONIC SEIZURE; TRANSFERRIN BLOOD LEVEL; WEST SYNDROME;

CARBOHYDRATE-DEFICIENT TRANSFERRIN; CONGENITAL DISORDER OF GLYCOSYLATION; DOLICHOL KINASE; DOLK-CDG; TRANSFERRIN GLYCOSYLATION;

ADOLESCENT; CHILD; CONGENITAL DISORDERS OF GLYCOSYLATION; FEMALE; GENOTYPE; GLYCOSYLATION; HUMANS; INFANT; MALE; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); SIBLINGS; TRANSFERRIN;

EID: 84885419238     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.07.002     Document Type: Article

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